Variant information


Systematic Name c.[1363G>T];[=]
Protein name p.[Glu455*];[=]
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA lymphocyte
Detection direct
Extent not known
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-male variant
Reference De novo MECP2 mutation in a 46,XX male patient with Rett patient:Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., Herkenrath, P.:Neurogenetics: 12481990

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Male Rett syndrome-male variant 4198 De novo MECP2 mutation in a 46,XX male patient with Rett patient:Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., Herkenrath, P.:Neurogenetics: 12481990